Find Locations
For hours, walk-ins and appointments.Special Instructions
Please direct any questions regarding this test to customer service at 800-345-4363.
Expected Turnaround Time
5 - 7 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Related Information
Specimen Requirements
Specimen
Whole blood or bone marrow
Volume
3 to 5 mL whole blood or 1 to 2 mL bone marrow
Minimum Volume
3 mL whole blood or 1 mL bone marrow (Note: This volume does not allow for repeat testing.)
Container
Lavender-top (EDTA) tube, green-top (sodium heparin) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube
Collection
Submit at room temperature. Indicate date and time of collection on test request form.
Storage Instructions
Maintain specimen at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection
Quantity not sufficient for analysis; hemolysis; frozen specimen; clotted blood specimen
Test Details
Use
NPM1 (nucleophosmin) mutation is one of the most common recurring genetic lesions in acute myeloid leukemia (AML). This AML type frequently has myelomonocytic or monocytic features and typically presents de novo in older adults with a normal karyotype. Prevalence increases with age, occurring in 2% to 8% of childhood AML and 27% to 35% of adult AML. The most common mutations, a 4-bp duplication at c.860_863 (exon 11) or insertion at c.863_864 (exon 11), accounts for 90% to 95% of NPM1 mutations. NPM1 mutations in absence of FLT3-ITD identify a prognostically favorable subgroup.
Limitations
This assay has a sensitivity to detect approximately 5% population of cells containing the 4-base pair duplication or insertion in exon 11 in a background of non-mutant cells. This assay will not detect the mutation below the sensitivity of this assay or other NPM1 mutations.
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Methodology
Polymerase chain reaction (PCR); capillary electrophoresis
References
Falini B, Nicoletti I, Martelli MF, Mecucci C. Acute myeloid leukemia carrying cytoplasmic/mutated nucleophosmin (NPMc+ AML): biologic and clinical features. Blood. 2007 Feb 1, 109(3):874-885.17008539
Mrózek K, Bloomfield CD. Chromosome aberrations, gene mutations and expression changes, and prognosis in adult acute myeloid leukemia. Hematology Am Soc Hematol Educ Program. 2006; 169-177.17124057
Schlenk RF, Döhner K, Krauter J, et al. Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med., 2008 May 1, 358(18):1909-1918.18450602
Schneider F, Hoster E, Unterhalt M, et al. NPM1 but not FLT3-ITD mutations predict early blast cell clearance and CR rate in patients with normal karyotype AML (NK-AML) or high-risk myelodysplastic syndrome (MDS). Blood. 2009 May 21; 113(21):5250-5253.19279329
Verhaak RG, Goudswaard CS, van Putten W, et al. Mutations in nucleophosmin (NPM1) in acute myeloid leukemia (AML): association with other gene abnormalities and previously established gene expression signatures and their favorable prognostic significance. Blood. 2005 Dec 1; 106(12):3747-3754.16109776
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 489140 | NPM1 Mutation Analysis | 489141 | NPM1 Mutation Analysis Result: | 54448-6 | ||
| 489140 | NPM1 Mutation Analysis | 489142 | Background: | 77202-0 | ||
| 489140 | NPM1 Mutation Analysis | 489139 | Methodology: | 49549-9 | ||
| 489140 | NPM1 Mutation Analysis | 489144 | References: | 75608-0 | ||
| 489140 | NPM1 Mutation Analysis | 489145 | Director Review: | 48672-0 |
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